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Full-Text Articles in Genetics and Genomics

Differences Between The Genomes Of Lymphoblastoid Cell Lines And Blood-Derived Samples., Lena M Joesch-Cohen, Gustavo Glusman Jan 2017

Differences Between The Genomes Of Lymphoblastoid Cell Lines And Blood-Derived Samples., Lena M Joesch-Cohen, Gustavo Glusman

Articles, Abstracts, and Reports

Lymphoblastoid cell lines (LCLs) represent a convenient research tool for expanding the amount of biologic material available from an individual. LCLs are commonly used as reference materials, most notably from the Genome in a Bottle Consortium. However, the question remains how faithfully LCL-derived genome assemblies represent the germline genome of the donor individual as compared to the genome assemblies derived from peripheral blood mononuclear cells. We present an in-depth comparison of a large collection of LCL- and peripheral blood mononuclear cell-derived genomes in terms of distributions of coverage and copy number alterations. We found significant differences in the depth of …